Variant report

Variant	rs2030463
Chromosome Location	chr4:78696879-78696880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78676527..78678706-chr4:78694641..78697046,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10005741	0.98[ASN][1000 genomes]
rs10007837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1010728	0.88[AMR][1000 genomes]
rs10222901	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039403	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10428319	0.84[AMR][1000 genomes]
rs10856982	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10856991	0.84[AMR][1000 genomes]
rs11097900	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11097935	0.98[ASN][1000 genomes]
rs11097965	0.91[AMR][1000 genomes]
rs1156059	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11727993	0.98[ASN][1000 genomes]
rs11730329	0.84[ASN][1000 genomes]
rs11730403	0.84[ASN][1000 genomes]
rs11731374	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11733759	0.82[ASN][1000 genomes]
rs11737353	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11939576	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12108312	0.88[AMR][1000 genomes]
rs12510593	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12643960	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13105201	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13111592	0.98[ASN][1000 genomes]
rs13118459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13128914	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13131896	0.84[ASN][1000 genomes]
rs13137909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13138341	0.86[ASN][1000 genomes]
rs13144225	0.98[ASN][1000 genomes]
rs13144226	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1402626	0.84[ASN][1000 genomes]
rs1501373	1.00[ASN][1000 genomes]
rs1502879	0.81[AMR][1000 genomes]
rs1521419	0.84[ASN][1000 genomes]
rs1554457	0.84[ASN][1000 genomes]
rs17002823	0.84[ASN][1000 genomes]
rs17002824	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17002825	0.84[ASN][1000 genomes]
rs17002828	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17002829	0.84[ASN][1000 genomes]
rs17002831	0.84[ASN][1000 genomes]
rs1813725	0.95[ASN][1000 genomes]
rs1814033	0.86[ASN][1000 genomes]
rs1980266	0.84[ASN][1000 genomes]
rs2008222	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2102116	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2134048	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2173869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2174078	0.88[AMR][1000 genomes]
rs2174080	0.88[AMR][1000 genomes]
rs2866444	0.91[ASN][1000 genomes]
rs2866688	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2866689	0.87[ASN][1000 genomes]
rs2866690	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2903291	0.98[ASN][1000 genomes]
rs3205281	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4078523	0.81[ASN][1000 genomes]
rs4304001	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4365752	0.84[ASN][1000 genomes]
rs4388114	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4410552	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4472161	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4541532	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4546268	0.84[AMR][1000 genomes]
rs4561950	0.84[AMR][1000 genomes]
rs4607246	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859506	0.90[ASN][1000 genomes]
rs4859871	0.86[ASN][1000 genomes]
rs4859872	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859876	0.98[ASN][1000 genomes]
rs4859878	0.98[ASN][1000 genomes]
rs55673370	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55694923	0.84[ASN][1000 genomes]
rs55886549	0.84[ASN][1000 genomes]
rs56138517	0.84[AMR][1000 genomes]
rs57246363	0.84[ASN][1000 genomes]
rs57357866	0.84[ASN][1000 genomes]
rs57501818	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57896992	0.88[AMR][1000 genomes]
rs58358199	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60135456	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6533217	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533226	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6533239	0.95[ASN][1000 genomes]
rs6533269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6533270	0.98[ASN][1000 genomes]
rs6533271	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6533272	0.98[ASN][1000 genomes]
rs6533274	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533290	0.84[ASN][1000 genomes]
rs6814830	0.89[ASN][1000 genomes]
rs6817305	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6817823	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6821826	0.88[AMR][1000 genomes]
rs6822317	0.84[ASN][1000 genomes]
rs6823465	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827822	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6828302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6829203	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6832015	0.84[AMR][1000 genomes]
rs6833179	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836627	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6838630	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6839504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6849922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6850049	0.98[ASN][1000 genomes]
rs6850111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6854989	0.84[AMR][1000 genomes]
rs6855336	0.95[ASN][1000 genomes]
rs6857067	0.98[ASN][1000 genomes]
rs72868269	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72869573	0.86[AMR][1000 genomes]
rs73827437	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73827443	0.84[ASN][1000 genomes]
rs73827451	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7439347	0.84[AMR][1000 genomes]
rs7655949	0.98[ASN][1000 genomes]
rs7656319	0.88[AMR][1000 genomes]
rs7657658	0.84[ASN][1000 genomes]
rs7659122	0.84[AMR][1000 genomes]
rs7661064	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7663359	0.84[AMR][1000 genomes]
rs7669988	0.98[ASN][1000 genomes]
rs7671941	0.84[AMR][1000 genomes]
rs7673642	0.88[AMR][1000 genomes]
rs7674744	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7675586	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7686883	0.84[ASN][1000 genomes]
rs7687170	0.84[AMR][1000 genomes]
rs7687812	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7689226	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7692075	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7693256	0.89[ASN][1000 genomes]
rs885376	0.85[ASN][1000 genomes]
rs9993942	0.90[ASN][1000 genomes]
rs9996218	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2030463	CNOT6L	cis	Artery Tibial	GTEx
rs2030463	CNOT6L	cis	Esophagus Muscularis	GTEx
rs2030463	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78632600-78697800	Weak transcription	Colonic Mucosa	Colon
2	chr4:78640800-78697800	Weak transcription	Stomach Mucosa	stomach
3	chr4:78643800-78714000	Weak transcription	Lung	lung
4	chr4:78650200-78697800	Weak transcription	Gastric	stomach
5	chr4:78650200-78697800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
8	chr4:78650800-78697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:78654200-78697600	Weak transcription	HSMMtube	muscle
10	chr4:78659800-78697800	Weak transcription	Esophagus	oesophagus
11	chr4:78662000-78697600	Weak transcription	Brain Angular Gyrus	brain
12	chr4:78662000-78697800	Weak transcription	Pancreas	Pancrea
13	chr4:78662200-78697800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:78677800-78698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:78678000-78698400	Weak transcription	HSMM	muscle
16	chr4:78682800-78697200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:78683600-78698400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:78684000-78697400	Weak transcription	GM12878-XiMat	blood
19	chr4:78684000-78697600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:78684000-78697800	Weak transcription	Fetal Brain Female	brain
21	chr4:78684000-78697800	Weak transcription	Fetal Kidney	kidney
22	chr4:78684000-78697800	Weak transcription	HMEC	breast
23	chr4:78684000-78697800	Weak transcription	K562	blood
24	chr4:78684000-78697800	Weak transcription	NHDF-Ad	bronchial
25	chr4:78684400-78697600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:78685600-78698000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:78686000-78698000	Weak transcription	NHEK	skin
28	chr4:78686600-78698000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:78687200-78697800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:78687200-78697800	Weak transcription	Psoas Muscle	Psoas
31	chr4:78687600-78697400	Weak transcription	Fetal Heart	heart
32	chr4:78687800-78697800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:78688400-78697600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:78688400-78698000	Strong transcription	Primary B cells from cord blood	blood
35	chr4:78688400-78698000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:78689200-78698000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:78689800-78698000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:78689800-78698400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr4:78690000-78697200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:78690000-78697600	Weak transcription	Right Ventricle	heart
41	chr4:78690400-78697600	Weak transcription	Osteobl	bone
42	chr4:78690400-78698600	Strong transcription	Dnd41	blood
43	chr4:78690600-78697200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:78690600-78698000	Weak transcription	Aorta	Aorta
45	chr4:78691000-78697200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:78691000-78697600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:78691200-78697400	Strong transcription	Placenta	Placenta
48	chr4:78691400-78698000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:78691400-78698000	Strong transcription	Fetal Thymus	thymus
50	chr4:78691600-78697000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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